Gaucher disease is a rare inherited (genetic), enzyme deficiency disorder.
Symptoms range from mild to severe and can appear at any time, from infancy to old age. They may include anaemia (low haemoglobin), tiredness (fatigue), easy bruising and a tendency to bleed.
An enlarged spleen and liver with a protruding stomach may also occur as well as bone pain, loss of bone strength and density with an increased risk of fractures.
People with Gaucher disease lack sufficient activity of an enzyme called glucocerebrosidase.
This enzyme helps the body to break down worn-out cells and as a result, a fatty substance called glucocerebroside accumulates usually in the spleen, liver, bone marrow, rarely in the lungs and in some types of Gaucher disease in the central nervous system.
The most common form of Gaucher disease (type 1) affects 1 in 100,000 of the general population but 1 in 850 of people of Jewish (Ashkenazi) descent. Not all those who inherit the mutated genes for this disorder will show symptoms.
In the rare Neuronopathic (types 2 and 3) Gaucher disease, neurological symptoms occur which include an eye movement disorder (oculomotor apraxia),
unsteadiness (ataxia), fits (seizures), some impairment of thinking (cognitive) and the way the brain handles sounds (central auditory process disorder). Children with type 2 Gaucher disease usually die within the first few years of life.